ClinVar

NM_030792.8(GDPD5):c.1138G>A (p.Val380Met)

Gene:

GDPD5:glycerophosphodiester phosphodiesterase domain containing 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 75442392 (on Assembly GRCh38)
• Chr11: 75153437 (on Assembly GRCh37)

Preferred name:

NM_030792.8(GDPD5):c.1138G>A (p.Val380Met)

HGVS:

• NC_000011.10:g.75442392C>T
• NM_001351167.2:c.724G>A
• NM_001351168.1:c.403G>A
• NM_030792.8:c.1138G>AMANE SELECT
• NP_001338096.1:p.Val242Met
• NP_001338097.1:p.Val135Met
• NP_110419.5:p.Val380Met
• NC_000011.9:g.75153437C>T
• NM_030792.6:c.1138G>A

This HGVS expression did not pass validation

Protein change:

V135M

Molecular consequence:

• NM_001351167.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351168.1:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_030792.8:c.1138G>A - missense variant - [Sequence Ontology: SO:0001583]